NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004102645.1
Allele description [Variation Report for NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg)]
NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 13, 2024